Screening Extended Families for Genetic Hemoglobin Disorders in Pakistan

Ahmed, Suhaib; Saleem, Mohammed; Modell, Bernadette; Petrou, Mary

doi:10.1056/nejmsa013234

Cited by 166 publications

(146 citation statements)

References 9 publications

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“…The family-centred approach could be particularly effective in consanguineous populations, due to the clustering of recessive gene variants and the specific nature of their kinship networks. A study in Pakistan has confirmed its acceptability and potential effectiveness (Ahmed et al 2002).…”

Section: Introductionmentioning

confidence: 97%

“…There is a low risk that couples will carry the same recessive gene, and the birth prevalence of children with recessive disorders is low (around 1.7/1,000) (Baird et al 1988). In consanguineous communities, gene variants tend to cluster within extended family groups (Ahmed et al 2002) increasing the chance that a carrier will choose a partner who carries the same gene variant. One result is an increased birth prevalence of infants with recessively inherited disorders and an increase in the prevalence of serious physical impairment (Modell and Darr 2002).…”

Section: Introductionmentioning

confidence: 99%

“…Hence, the approach integrates the offer of information and support to extended family members, with an underpinning community engagement programme to increase the genetic literacy of the public and combat misinformation (Darr 2009). Familial links, based on blood ties and consolidated through marriage, are not only genetic links but are also potential channels for information and support (Darr 1997;Ahmed et al 2002). The feasibility of using such links in practice depends on family networks being active and their members willing to acquire and share information about genetic risk, with a concomitant effort from service providers to facilitate these processes.…”

Section: Introductionmentioning

confidence: 99%

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Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective

et al. 2012

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WHO advice suggests a family-centred approach for managing the elevated risk of recessively inherited disorders in consanguineous communities, whilst emerging policy recommends community engagement as an integral component of genetic service development. This paper explores the feasibility of the family-centred approach in the UK Pakistani origin community. The study took place within a context of debate in the media, professional and lay circles about cousin marriage causing disability in children. Using qualitative methods, a total of six single-sex focus group discussions (n050) were conducted in three UK cities with a high settlement of people of Pakistani origin. Tape-recorded transcripts were analysed using framework analysis. Kinship networks within Pakistani origin communities are being sustained and marriage between close blood relatives continues to take place alongside other marriage options. Study participants were critical of what was perceived as a prevalent notion that cousin marriage causes disability in children. They were willing to discuss cousin marriage and disability, share genetic information and engage with genetic issues. A desire for accurate information and a public informed about genetic issues was articulated whilst ineffective communication of genetic risk information undermined professionals in their support role. This study suggests a community that is embracing change, one in which kinship networks are still active and genetic information exchange is taking place. At the community level, these are conditions supportive of the family-centred approach to genetic testing and counselling.

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Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective

et al. 2012

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“…Members of families in which an autosomal recessive disorder has occurred can be given the information they need to make their own informed choices when planning marriage and reproduction. A family based approach has been explored in families affected with thalassaemia in Pakistan and been found to be an effective strategy for identifying and counselling carriers of recessively inherited disorders (Ahmed et al 2002). Molecular diagnosis is now available for an increasing number of autosomal recessive disorders and individuals within an extended family can often be offered appropriate carrier testing.…”

Section: Introductionmentioning

confidence: 99%

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

Khan

Benson²,

MacLeod

et al. 2010

J Community Genet

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Blackburn with Darwen Primary Care Trust (PCT) provides services to a substantial Asian population in which the practice of consanguineous marriage is common and there is a high incidence of autosomal recessive disorders. The aim was to provide and evaluate a genetic service accessible to consanguineous families from the South Asian community who had a child affected by an autosomal recessive disorder. Information on genetic risk was provided along with the offer of genetic testing for members of the extended family to identify gene carriers and facilitate informed reproductive choices. An Urduspeaking health visitor was employed to establish a community-based, hospital-linked genetic service in conjunction with local paediatric and regional genetic services offered to parents who had an affected child and 71 of their relatives. The service was evaluated using a specifically designed questionnaire. There was a high uptake of the service (95% of index parents and 92% of relatives to whom it was offered) and a high uptake of carrier testing (94% of relatives to whom it was offered). Eight requests for prenatal diagnosis were made during the course of the service development. Many individuals stated they would consider genetic risk when making future marriage and reproductive plans. Input from a health care worker from the same ethnic background who provided information in their own language was highly valued. Family orientated genetic services for ethnic groups practicing consanguinity can be acceptable and effective when provided in a culturally appropriate manner.

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“…An F of 0.0625, equivalent to 100% first cousin marriage, may be taken to represent a notional upper limit. A coefficient of consanguinity of 0.025-0.03 is common in the Middle East (Bittles 1990), and F=0.0412 among British Pakistanis and in Pakistan (Bundey et al 1990;Ahmed et al 2002). Parental consanguinity is clearly common in the Maldives, though no formal evaluation has been made.…”

Section: Analysis Of Laboratory Datamentioning

confidence: 99%

Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives

2011

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Screening Extended Families for Genetic Hemoglobin Disorders in Pakistan

Cited by 166 publications

References 9 publications

Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective

Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives

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